This website provides information on patients with mutations in the NDUFB11 (NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 11) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the NDUFB11 gene is a multisystem disorder characterized by linear skin defects, cardiomyopathy and other congenital anomalies. Mutations in this transcript have also been described in a severe form of mitochondrial complex I deficiency and in congenital sideroblastic anemia.
Not all individuals with a mutation in the NDUFB11 gene have the same features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the NDUFB11 gene.
Brunella Franco, MD, Telethon Institute of Genetics and Medicine and Federico II University of Naples, Pozzuoli (Naples) Italy, email@example.com
Alessia Indrieri, PhD, Telethon Institute of Genetics and Medicine and Institute for Genetic and Biomedical Research, National Research Council, Pozzuoli (Naples) Italy, firstname.lastname@example.org